Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:Sort1'

677869

Institutional Source

Beutler Lab

Gene Symbol

Sort1

Ensembl Gene

ENSMUSG00000068747

Gene Name

sortilin 1

Synonyms

Ntsr3, neurotensin receptor 3, Ntr3, sortilin, 2900053A11Rik

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R8894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108191398-108268827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108246228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 402 (F402L)

Ref Sequence

ENSEMBL: ENSMUSP00000123564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102632] [ENSMUST00000135636]

AlphaFold

Q6PHU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102632
AA Change: F402L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: F402L

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	33	47	N/A	INTRINSIC
low complexity region	59	79	N/A	INTRINSIC
VPS10	131	743	N/A	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135636
AA Change: F402L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: F402L

Domain	Start	End	E-Value	Type
VPS10	1	218	2.3e-5	SMART
transmembrane domain	262	284	N/A	INTRINSIC

Meta Mutation Damage Score

0.5698

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,216,397 (GRCm39)	V291M	probably benign	Het
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,979,176 (GRCm39)	W649*	probably null	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,571,273 (GRCm39)		probably benign	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Spata31f1a	A	G	4: 42,853,688 (GRCm39)	C47R	possibly damaging	Het
Tlr2	T	A	3: 83,744,091 (GRCm39)	E664V	probably damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly damaging	Het

Other mutations in Sort1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Sort1	APN	3	108,263,623 (GRCm39)	missense	probably damaging	0.99
IGL01677:Sort1	APN	3	108,252,201 (GRCm39)	missense	probably benign	0.05
IGL02532:Sort1	APN	3	108,233,036 (GRCm39)	missense	probably benign	0.44
IGL03354:Sort1	APN	3	108,256,022 (GRCm39)	missense	probably benign	0.00
R0266:Sort1	UTSW	3	108,252,247 (GRCm39)	missense	probably benign	0.09
R0277:Sort1	UTSW	3	108,231,908 (GRCm39)	splice site	probably benign
R0559:Sort1	UTSW	3	108,263,895 (GRCm39)	missense	probably damaging	1.00
R0597:Sort1	UTSW	3	108,246,226 (GRCm39)	missense	probably damaging	1.00
R0624:Sort1	UTSW	3	108,255,946 (GRCm39)	missense	probably damaging	1.00
R1803:Sort1	UTSW	3	108,233,015 (GRCm39)	missense	probably damaging	1.00
R1872:Sort1	UTSW	3	108,248,011 (GRCm39)	missense	probably benign	0.01
R1986:Sort1	UTSW	3	108,253,043 (GRCm39)	missense	possibly damaging	0.71
R2130:Sort1	UTSW	3	108,259,002 (GRCm39)	missense	probably benign
R2131:Sort1	UTSW	3	108,259,002 (GRCm39)	missense	probably benign
R2133:Sort1	UTSW	3	108,259,002 (GRCm39)	missense	probably benign
R2362:Sort1	UTSW	3	108,253,981 (GRCm39)	missense	possibly damaging	0.89
R3436:Sort1	UTSW	3	108,245,123 (GRCm39)	missense	probably damaging	1.00
R3548:Sort1	UTSW	3	108,245,225 (GRCm39)	missense	possibly damaging	0.83
R3700:Sort1	UTSW	3	108,263,955 (GRCm39)	nonsense	probably null
R4496:Sort1	UTSW	3	108,217,461 (GRCm39)	missense	probably benign	0.17
R4616:Sort1	UTSW	3	108,262,857 (GRCm39)	missense	possibly damaging	0.66
R4632:Sort1	UTSW	3	108,253,994 (GRCm39)	missense	probably damaging	1.00
R4749:Sort1	UTSW	3	108,263,639 (GRCm39)	nonsense	probably null
R4994:Sort1	UTSW	3	108,235,385 (GRCm39)	missense	probably damaging	0.99
R5187:Sort1	UTSW	3	108,231,992 (GRCm39)	missense	probably damaging	1.00
R5753:Sort1	UTSW	3	108,253,090 (GRCm39)	missense	probably damaging	1.00
R6019:Sort1	UTSW	3	108,264,549 (GRCm39)	missense	possibly damaging	0.77
R6262:Sort1	UTSW	3	108,217,527 (GRCm39)	missense	probably damaging	1.00
R7369:Sort1	UTSW	3	108,258,996 (GRCm39)	missense	probably damaging	1.00
R7484:Sort1	UTSW	3	108,246,141 (GRCm39)	missense	probably damaging	1.00
R7512:Sort1	UTSW	3	108,233,323 (GRCm39)	splice site	probably null
R8076:Sort1	UTSW	3	108,246,183 (GRCm39)	missense	probably damaging	1.00
R8222:Sort1	UTSW	3	108,241,951 (GRCm39)	missense	probably benign
R8871:Sort1	UTSW	3	108,262,887 (GRCm39)	critical splice donor site	probably null
R9169:Sort1	UTSW	3	108,247,994 (GRCm39)	nonsense	probably null
Z1177:Sort1	UTSW	3	108,191,696 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTCCAGCCTCTAAGTCGGATG -3'
(R):5'- AAAAGGGTAGGCTTGTTGGC -3'

Sequencing Primer
(F):5'- GCTATGCAGTCATGACTAGAGTAC -3'
(R):5'- CTAGGCAAGCACATGGTGG -3'

Posted On

2021-08-02